Variant report

Variant	rs72811510
Chromosome Location	chr2:48100915-48100916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48092466..48094025-chr2:48100361..48102439,2	MCF-7	breast:
2	chr2:48099277..48101061-chr2:48116565..48119523,2	K562	blood:
3	chr2:48099248..48101963-chr2:48131096..48133771,2	MCF-7	breast:
4	chr2:48098108..48101004-chr2:48103114..48104989,3	K562	blood:
5	chr2:48099053..48102786-chr2:48106081..48109104,3	K562	blood:

Variant related genes	Relation type
ENSG00000233230	Chromatin interaction
ENSG00000138081	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17037016	1.00[AMR][1000 genomes]
rs2020910	1.00[AFR][1000 genomes]
rs55690709	1.00[AMR][1000 genomes]
rs72811506	1.00[AFR][1000 genomes]
rs72811508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811511	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48065400-48114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48067000-48122000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:48084400-48108000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:48089800-48121000	Weak transcription	Aorta	Aorta
5	chr2:48094800-48103000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:48095000-48107800	Weak transcription	NHLF	lung
7	chr2:48095000-48118200	Weak transcription	NH-A	brain
8	chr2:48095200-48118400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:48095200-48127200	Weak transcription	Fetal Kidney	kidney
10	chr2:48095400-48101800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:48095400-48109400	Weak transcription	Brain Germinal Matrix	brain
12	chr2:48095400-48118200	Weak transcription	HMEC	breast
13	chr2:48095400-48129600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:48095800-48101000	Genic enhancers	Primary T cells from cord blood	blood
15	chr2:48095800-48101000	Enhancers	Brain Angular Gyrus	brain
16	chr2:48095800-48101200	Strong transcription	Fetal Intestine Large	intestine
17	chr2:48095800-48101400	Strong transcription	Fetal Muscle Leg	muscle
18	chr2:48096000-48105800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:48096000-48108000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:48096000-48109200	Weak transcription	A549	lung
21	chr2:48096000-48123400	Weak transcription	Esophagus	oesophagus
22	chr2:48096200-48101000	Weak transcription	Lung	lung
23	chr2:48096400-48101200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:48097000-48101200	Strong transcription	HepG2	liver
25	chr2:48097400-48101000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:48097600-48101200	Strong transcription	Dnd41	blood
27	chr2:48097600-48102000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:48097800-48123400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:48098000-48102200	Weak transcription	Osteobl	bone
30	chr2:48098000-48118400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:48098000-48122400	Weak transcription	Fetal Brain Male	brain
32	chr2:48098200-48109400	Weak transcription	Fetal Brain Female	brain
33	chr2:48098200-48115200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:48098200-48115400	Weak transcription	HSMM	muscle
35	chr2:48098400-48101000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:48098400-48102800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:48098400-48105000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:48098400-48105800	Weak transcription	Ovary	ovary
39	chr2:48098400-48108000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:48098400-48110200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:48098400-48112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:48098400-48117400	Weak transcription	Placenta	Placenta
43	chr2:48098400-48119600	Weak transcription	Liver	Liver
44	chr2:48098400-48125000	Weak transcription	HUVEC	blood vessel
45	chr2:48098600-48101000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:48098600-48101400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:48098600-48102600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:48098600-48109400	Weak transcription	Fetal Lung	lung
49	chr2:48098600-48117600	Weak transcription	Left Ventricle	heart
50	chr2:48098600-48119200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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